A 3yearold boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. They are related to lymphocyte infiltration of the cns. Griscelli syndrome, a rare, autosomal recessive disorder. Hair microscopy confirmed griscelli syndrome gs figure 1, bd. Griscelli syndrome gs, mim 214450, a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of. Griscelli disease definition of griscelli disease by. Jan 14, 2020 griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. There are three different subtypes of the disorder i, ii and iii each with varying additional features such as immunodeficiency and neurological symptoms. It is characterized by reduced pigmentation of the skin, silvery discoloration of the hair and immunodeficiency. Examination showed silverygray hair figure 1a, bilateral papilledema, spastic quadriparesis, brisk musclestretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. It is of three types with a common feature of pigmentary dilution.
Griscelli syndrome is a rare hereditary syndrome characterised by pigmentary dilution of the skin and. Griscelli syndrome, albinism, haemophagocytic lymphohistiocytosis introduction griscelli syndrome gs, mim 214450 and 607624 is a rare, autosomal recessive disorder which results in generalised hypopigmentation of the skin and the hair, the presence of clumps of pigment in the hair shafts and an accumulation of melanosomes in the melanocytes. Omim 609227 results from mutations in mlph 581,582. Griscelli syndrome was first described by griscelli and prunieras in 1978 1. Mutations in rab27a cause griscelli syndrome associated. Griscelli and prunieras initially described griscelli syndrome. Type 3 griscelli syndrome manifests with merely partial albinism. Griscelli syndrome gs is a rare cutaneous disease characterized by a silvery.
Macrophage activation syndrome associated with griscelli syndrome. Untill 2014, only 10 cases of griscelli syndrome type 2 gs2 have been reported from india. Pdf griscelli syndrome is a rare autosomal recessive disorder. Griscelli syndrome type 1 gs1 represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome menasche et al. Griscelli syndrome with immune impairment, or griscelli syndrome type 2 607624, is caused by mutation in the rab27a gene 603868. Successful treatment of griscelli syndrome with unrelated donor. Pubmed is a searchable database of medical literature and lists journal articles that discuss griscelli syndrome type 2. Several patients from this kindred displayed neurological manifestations related to the hemophagocytic syndrome hps. Enable javascript to view the expandcollapse boxes. Griscelli syndrome type 2 genetic and rare diseases. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010.
Griscelli syndrome is a very rare autosomal recessive disorder with only about 60 cases reported in the literature. Griscelli syndrome genetic and rare diseases information. The griscelli syndrome is characterized by reduced skin pigmentation, often regarded as partial albinism, and silverygray hair combined in one type with immunodeficiency. This is a different entity from chediakhigashi syndrome, which also presents with partial albinism. Jan 14, 2020 griscelli syndrome ii can also cause neurologic manifestations in association with hs accelerated phase. Nov 01, 2018 griscelli syndrome gs is a rare cutaneous disease characterized by a silverygray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment type 1, immunologic impairment type 2 or be isolated type 3. The study of griscelli syndrome, type 2 has been mentioned in research publications which can be found using our bioinformatics tool below. The goal of treatment is to stop the inflammatory process. Very often there is also impaired natural killer cell activity, absent delayedtype hypersensitivity and a poor cell. Pdf griscelli syndrome is a multisystemic disorder. Griscelli syndrome, hypertriglyceridemia, silvery hair.
Gs2 patients also develop an uncontrolled tlymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism hypopigmentation with immunodeficiency, that usually causes death by early childhood. A rare genetic disorder characterized mainly by albinism lack of pigmentation. Research of griscelli syndrome, type 2 has been linked to hypopigmentationimmunodeficiency disease, immunologic deficiency syndromes, lymphohistiocytosis, hemophagocytic, piebaldism, albinism. Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silverygray hair and accumulation of melanosomes in melanocytes. Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, enlargement of the liver and spleen, a low blood neutrophil level, low blood platelet level, and immunodeficiency.
Griscelli syndrome how is griscelli syndrome abbreviated. Macrophage activation syndrome, griscelli syndrome type 2. Griscelli syndrome is a little frequent disease first described in 1978. The purpose of this article is to alert physicians to the association between gs and hemophagocytosis. Griscelli disease symptoms, diagnosis, treatments and causes. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Griscelli syndrome is an autosomal recessive condition meaning that two defective genes are inherited, one from each parent. May 11, 2009 griscelli syndrome gs is a rare autosomal recessive disorder caused by mutations in either the myosin va gs1, rab27a gs2 or melanophilin gs3 genes. Griscelli syndrome type 2 also known as partial albinism with immunodeficiency is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.
Neurologic problems may be the first sign of hs accelerated phase. Griscelli syndrome, type 2 how is griscelli syndrome, type. Mlph consists of 16 exons 15 coding exons located on chromosome 2q37, and is the human orthologue of the mouse leaden ln gene. It is usually rapidly fatal within 14 years without aggressive treatment and bone. Griscelli and siccardi described griscelli syndrome gs or partial albinism with cellular immunodeficiency for the first time in 1978 at a hospital in paris. Mutations in rab27a cause griscelli syndrome associated with. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Hematopoietic sct in children with griscelli syndrome. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin, silvery gray.
A total of 10 patients are now alive and disease free at a median of 4. The case presented here sufficed the diagnostic criteria for hlh laid by histiocytic society which includes fever, hepatosplenomegaly, cytopenia involving at least two cell lineage, hypertriglyceridemia andor hypofibrinogenemia coupled with hemophagocytosis in bone marrow, spleen or lymph node. The three gs subtypes are commonly characterized by pigment dilution of the skin and hair, due to defects involving melanosome transport in melanocytes. Griscelli syndrome gs is a rare autosomal recessive disorder caused by mutation in the myo5a gs1, rab27a gs2, and mlph gs3 genes, characterized by a common feature, partial albinism. Griscelli syndrome type 2 is caused by a gene mutation involving rab27a, which affects a melanosomeanchoring complex in melanocytes, affecting release of cytolytic granules from t cells and natural killer cells. Griscelli syndrome gs is a rare autosomal recessive immune deficiency disorder that. Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silverygray hair starting in infancy. Click on the link to view a sample search on this topic. Griscelli syndrome gs is a rare autosomal recessive disorder caused.
May 01, 2017 access to this database is free of charge. Griscelli syndrome kumar t s, ebenazar s, moses pd indian j. Griscelli syndrome genetic trait causing partial albinism and frequent episodes of fever, decrease in blood platelets, and neutropenia. An indian boy with griscelli syndrome type 2 indian j dermatol.
Lewis, in principles and practice of pediatric infectious diseases fifth edition, 2018. Gs2 was confirmed for her and her treatment was started with ivig. Griscelli syndrome an overview sciencedirect topics. These problems are not as severe as those found in griscelli syndrome type 1 and tend to fluctuate. Griscelli syndrome usually presents in infancy or early childhood, in most cases between the ages of 4 months and 7 years. The diagnosis was confirmed by microscopic skin and hair examination. In gs2, the lymphohistiocytic infiltration of brain occurs in an accelerated phase, resulting in seizures, hypertonia, hyperreflexia, cerebellar signs, hemiparesis, increased. We describe a 2monthold hispanic girl with severe pancytopenia secondary to hemophagocytosis.
Griscelli syndrome type 1 involves severe problems with. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular. Even though a mutation at the griscelli locus had not been identified, her clinical features and outcome were typical of gs. Hearing, in emery and rimoins principles and practice of medical genetics, 20. Pronunciation of griscelli with 1 audio pronunciation, 2 translations and more for griscelli. Partial albinism with immunodeficiency was described in 1978 by griscelli and michel prunieras in two patients and antonio g. Griscelli syndrome gs, mim 214450, a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an. Griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin, silverygray.
The spectrum of neurological involvement in griscelli syndrome is varied. Griscelli syndrome definition of griscelli syndrome by. Three variants of griscelli syndrome have been identified. Results with hlh94 treatment protocol showed a 55% diseasefree survival at 3. Making a correct a diagnosis is of paramount importance as this will facilitate optimum treatment in cases with gs. Griscelli syndrome gs is a rare cutaneous disease characterized by a silverygray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment type 1, immunologic impairment type 2 or be isolated type 3. This disorder is rare and up to now, only about 60 cases have been reported worldwide. In total, 11 consecutive pediatric patients with griscelli syndrome gs type 2, who received allogeneic hematopoietic sct ahsct at our center between 1993.
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